Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	57038
Gene name	Arginyl-tRNA synthetase 2, mitochondrial
Gene symbol	RARS2
Synonyms (NCBI Gene)	ArgRSDALRD2PCH6PRO1992RARSL
Chromosome	6
Chromosome location	6q15
Summary	This nuclear gene encodes a protein that localizes to the mitochondria, where it catalyzes the transfer of L-arginine to its cognate tRNA, an important step in translation of mitochondrially-encoded proteins. Defects in this gene are a cause of pontocereb

Show/Hide all (39)

SNP ID	Visualize variation	Clinical significance	Consequence
rs34647222	C>T	Likely-pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs63749985	T>C,G	Pathogenic	Intron variant
rs138360045	T>C,G	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, intron variant, synonymous variant, 5 prime UTR variant, coding sequence variant
rs143389605	T>C,G	Uncertain-significance, likely-pathogenic	Coding sequence variant, 5 prime UTR variant, intron variant, missense variant, non coding transcript variant
rs144896612	T>C	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs145189950	C>G,T	Uncertain-significance, likely-benign, benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs145499324	T>C,G	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant, missense variant
rs147844153	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs199728745	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs199835443	G>A,C	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained, non coding transcript variant, missense variant
rs387907048	T>C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs750433723	C>T	Likely-pathogenic	Intron variant, genic downstream transcript variant
rs756502974	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs756696262	TT>-,TTT	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs757743894	TTT>-	Pathogenic, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, inframe deletion, coding sequence variant, non coding transcript variant, intron variant
rs759331139	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs759420180	AA>-,AAA	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant, non coding transcript variant, intron variant
rs759922477	C>G,T	Pathogenic	Splice donor variant, downstream transcript variant, genic downstream transcript variant
rs764875815	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs765044856	C>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs765088174	T>C	Likely-pathogenic	Coding sequence variant, downstream transcript variant, missense variant, genic downstream transcript variant, non coding transcript variant
rs769473411	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs772887102	A>C	Pathogenic, likely-pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs773838753	GA>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs775295739	A>C,G	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs777942571	G>-	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, frameshift variant, intron variant, coding sequence variant
rs781417096	T>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs863224180	A>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs863224182	->C	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs863224183	->A,AA	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, downstream transcript variant, non coding transcript variant
rs863224186	G>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs886041639	C>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, intron variant, non coding transcript variant
rs1057522050	A>G,T	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs1064795060	CTGGAAAACACGATCCCAGCTGAACT>-	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1258569046	A>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1554203400	G>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1582264160	G>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1582576986	A>G	Likely-pathogenic	Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, intron variant
rs1582712331	AC>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant, non coding transcript variant

Show/Hide all (61)

miRTarBase ID	miRNA	Experiments	Reference
MIRT027320	hsa-miR-101-3p	Sequencing	20371350
MIRT028668	hsa-miR-30a-5p	Proteomics	18668040
MIRT030355	hsa-miR-26b-5p	Sequencing	20371350
MIRT722414	hsa-miR-499a-3p	HITS-CLIP	19536157
MIRT722413	hsa-miR-499b-3p	HITS-CLIP	19536157
MIRT722412	hsa-miR-377-5p	HITS-CLIP	19536157
MIRT722411	hsa-miR-6086	HITS-CLIP	19536157
MIRT722410	hsa-miR-6499-3p	HITS-CLIP	19536157
MIRT722409	hsa-miR-3689d	HITS-CLIP	19536157
MIRT722407	hsa-miR-6851-5p	HITS-CLIP	19536157
MIRT722408	hsa-miR-7847-3p	HITS-CLIP	19536157
MIRT710075	hsa-miR-6807-5p	HITS-CLIP	19536157
MIRT722406	hsa-miR-455-3p	HITS-CLIP	19536157
MIRT722405	hsa-miR-6516-5p	HITS-CLIP	19536157
MIRT710077	hsa-miR-6779-3p	HITS-CLIP	19536157
MIRT516294	hsa-miR-5011-5p	HITS-CLIP	19536157
MIRT710076	hsa-miR-146b-3p	HITS-CLIP	19536157
MIRT516293	hsa-miR-190a-3p	HITS-CLIP	19536157
MIRT710075	hsa-miR-6807-5p	HITS-CLIP	19536157
MIRT516294	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT707279	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT707278	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT516293	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT516292	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT707277	hsa-miR-574-5p	HITS-CLIP	21572407
MIRT516294	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT516293	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT516292	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT516294	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT516293	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT516292	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT439816	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439816	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT722414	hsa-miR-499a-3p	HITS-CLIP	19536157
MIRT722413	hsa-miR-499b-3p	HITS-CLIP	19536157
MIRT722412	hsa-miR-377-5p	HITS-CLIP	19536157
MIRT722411	hsa-miR-6086	HITS-CLIP	19536157
MIRT722410	hsa-miR-6499-3p	HITS-CLIP	19536157
MIRT722409	hsa-miR-3689d	HITS-CLIP	19536157
MIRT722407	hsa-miR-6851-5p	HITS-CLIP	19536157
MIRT722408	hsa-miR-7847-3p	HITS-CLIP	19536157
MIRT710075	hsa-miR-6807-5p	HITS-CLIP	19536157
MIRT722406	hsa-miR-455-3p	HITS-CLIP	19536157
MIRT722405	hsa-miR-6516-5p	HITS-CLIP	19536157
MIRT710077	hsa-miR-6779-3p	HITS-CLIP	19536157
MIRT516294	hsa-miR-5011-5p	HITS-CLIP	19536157
MIRT710076	hsa-miR-146b-3p	HITS-CLIP	19536157
MIRT516293	hsa-miR-190a-3p	HITS-CLIP	19536157
MIRT710075	hsa-miR-6807-5p	HITS-CLIP	19536157
MIRT516294	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT707279	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT707278	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT516293	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT516292	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT707277	hsa-miR-574-5p	HITS-CLIP	21572407
MIRT516294	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT516293	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT516292	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT516294	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT516293	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT516292	hsa-miR-1277-5p	PAR-CLIP	23446348

Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003723	Function	RNA binding	HDA	22681889
GO:0004812	Function	Aminoacyl-tRNA ligase activity	IEA
GO:0004814	Function	Arginine-tRNA ligase activity	IBA
GO:0004814	Function	Arginine-tRNA ligase activity	IEA
GO:0004814	Function	Arginine-tRNA ligase activity	IMP	17847012
GO:0004814	Function	Arginine-tRNA ligase activity	TAS
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006399	Process	TRNA metabolic process	IEA
GO:0006412	Process	Translation	IEA
GO:0006418	Process	TRNA aminoacylation for protein translation	IEA
GO:0006418	Process	TRNA aminoacylation for protein translation	TAS
GO:0006420	Process	Arginyl-tRNA aminoacylation	IBA
GO:0006420	Process	Arginyl-tRNA aminoacylation	IEA
GO:0010467	Process	Gene expression	IEA
GO:0016020	Component	Membrane	IEA
GO:0016874	Function	Ligase activity	IEA
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0031966	Component	Mitochondrial membrane	IMP	30006346
GO:0032543	Process	Mitochondrial translation	IBA

MIM	HGNC	e!Ensembl
611524	21406	ENSG00000146282

Q5T160

Protein name

Probable arginine--tRNA ligase, mitochondrial (EC 6.1.1.19) (Arginyl-tRNA synthetase) (ArgRS)

Protein function

Catalyzes the attachment of arginine to tRNA(Arg) in a two-step reaction: arginine is first activated by ATP to form Arg-AMP and then transferred to the acceptor end of tRNA(Arg).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00750	tRNA-synt_1d	102 → 449	tRNA synthetases class I (R)	Family
PF05746	DALR_1	463 → 578	DALR anticodon binding domain	Domain

Sequence

MACGFRRAIACQLSRVLNLPPENLITSISAVPISQKEEVADFQLSVDSLLEKDNDHSRPD
IQVQAKRLAEKLRCDTVVSEISTGQRTVNFKINRELLTKTVLQQVIEDGSKYGLKSELFS
GLPQKKIVVEFSSPNVAKKFHVGHLRSTIIGNFIANLKEALGHQVIRINYLGDWGMQFGL
LGTGFQLFGYEEKLQSNPLQHLFEVYVQVNKEAADDKSVAKAAQEFFQRLELGDVQALSL
WQKFRDLSIEEYIRVYKRLGVYFDEYSGESFYREKSQEVLKLLESKGLLLKTIKGTAVVD
LSGNGDPSSICTVMRSDGTSLYATRDLAAAIDRMDKYNFDTMIYVTDKGQKKHFQQVFQM
LKIMGYDWAERCQHVPFGVVQGMKTRRGDVTFLEDVLNEIQLRMLQNMASIKTTKELKNP
QETAERVGLAALIIQDFKGLLLSDYKFSWDRVFQSRGDTGVFLQYTHARLHSLEETFGCG
YLNDFNTACLQEPQSVSILQHLLRFDEVLYKSSQDFQPRHIVSYLLTLSHLAAVAHKTLQ
IKDSPPEVAGARLHLFKAVRSVLANGMKLLGITPVCRM

Sequence length

578

Interactions

View interactions

	KEGG		Reactome
	Aminoacyl-tRNA biosynthesis		Mitochondrial tRNA aminoacylation

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cervical cancer	Likely pathogenic	rs771801398	RCV005925591	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital cerebellar hypoplasia	Likely pathogenic; Pathogenic	rs1258569046	RCV001258003	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial disease	Likely pathogenic; Pathogenic	rs777942571	RCV005355996	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Likely pathogenic	rs1213073076	RCV005931307	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pontocerebellar hypoplasia type 6	Likely pathogenic; Pathogenic	rs754610170, rs1428801547, rs1410239766, rs1360282089, rs767056243, rs762495974, rs1419422047, rs2127999204, rs2127994036, rs143076225, rs757778880, rs1326705217, rs199862050, rs750319167, rs774923951 View all (113 more)	RCV002486337 RCV003462959 RCV003469627 RCV002499819 RCV003462979 View all (131 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pontoneocerebellar hypoplasia	Likely pathogenic; Pathogenic	rs1410239766, rs2128238503, rs757778880, rs1772453347, rs757743894, rs772887102, rs2483060451, rs2484305794, rs749630029, rs759331139, rs1258569046, rs199862050, rs755936301, rs756101515	RCV003226466 RCV001797837 RCV001844713 RCV003317564 RCV002271457 View all (9 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RARS2-related disorder	Likely pathogenic; Pathogenic	rs863224183	RCV003401073	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (21)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Abnormal brain morphology	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR HYPOPLASIA/ATROPHY, EPILEPSY, AND GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDERS OF GLYCOSYLATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PONTOCEREBELLAR HYPOPLASIA, TYPE 6	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe intellectual deficiency	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (59)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acidosis Lactic	Lactic acidosis	Pubtator	27769281, 34717047	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrophy/Degeneration affecting the brainstem	Brainstem Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	25809939, 37344844	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	26083569	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	BEFREE	26970947, 27769281		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar hypoplasia	Pubtator	27769281	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	BEFREE	21826524, 24047924		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pontocerebellar hypoplasia	Pontoneocerebellar hypoplasia	GENOMICS_ENGLAND_DG	20635367		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pontocerebellar hypoplasia	Pontoneocerebellar hypoplasia	BEFREE	21273289, 22569581, 24047924, 25809939, 26970947, 27061686, 27769281		★★★★★ ★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	26083569	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	22569581, 25809939, 31536827		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsies Myoclonic	Myoclonic epilepsy	Pubtator	34717047	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	GENOMICS_ENGLAND_DG	20635367		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	30921410		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	34717047	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	26970947		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	34717047	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Focal Clonic Seizures	Focal Clonic Seizures	BEFREE	27061686		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	24047924		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	BEFREE	26083569		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops fetalis	Pubtator	26083569	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile Spasm	Infantile Spasms	BEFREE	27061686		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation	Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	BEFREE	30006346		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meibomian Cyst	Meibomian Cyst	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MELAS Syndrome	MELAS Syndrome	BEFREE	22283595		★★★★★ ★☆☆☆☆ Found in Text Mining only
MERRF Syndrome	MERRF Syndrome	BEFREE	22283595		★★★★★ ★☆☆☆☆ Found in Text Mining only
MERRF Syndrome	Myoclonic epilepsy with ragged red fibers	Pubtator	26083569	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	26970947		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	26083569	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	30921410		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Encephalomyopathies	Mitochondrial encephalomyopathy	BEFREE	21826524		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Respiratory Chain Deficiencies	Mitochondrial Respiratory Chain Deficiencies	BEFREE	26083569		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	26970947, 30006346		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	30006346		★★★★★ ★☆☆☆☆ Found in Text Mining only
PEHO syndrome	PEHO Syndrome	BEFREE	31536827		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pontocerebellar Hypoplasia	Pontocerebellar hypoplasia	Pubtator	17847012, 20952379, 25809939, 27769281, 34717047, 37344844	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pontocerebellar Hypoplasia Type 1	Pontoneocerebellar hypoplasia	BEFREE	20952379		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pontocerebellar Hypoplasia Type 1	Pontoneocerebellar hypoplasia	ORPHANET_DG	20952379		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pontocerebellar Hypoplasia Type 1	Pontocerebellar hypoplasia	Pubtator	20952379, 27061686, 27769281	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pontocerebellar hypoplasia type 1	Pontoneocerebellar hypoplasia	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pontocerebellar Hypoplasia Type 2	Pontocerebellar hypoplasia	Pubtator	27061686	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pontocerebellar Hypoplasia Type 6	Pontoneocerebellar hypoplasia	GENOMICS_ENGLAND_DG	20635367, 24896178, 26083569, 27604308		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pontocerebellar Hypoplasia Type 6	Pontoneocerebellar hypoplasia	BEFREE	20952379, 22086604, 24047924, 25289895, 26083569, 27769281, 29434700, 30006346, 31536827		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pontocerebellar Hypoplasia Type 6	Pontocerebellar hypoplasia	Pubtator	20952379, 25809939, 26083569, 27061686, 27769281, 37344844	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pontocerebellar Hypoplasia Type 6	Pontoneocerebellar hypoplasia	CLINVAR_DG	22086604, 25356970, 26795593, 27061686		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pontocerebellar Hypoplasia Type 6	Pontoneocerebellar hypoplasia	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pontocerebellar Hypoplasia Type 6	Pontoneocerebellar hypoplasia	ORPHANET_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pontocerebellar hypoplasia type 6	Pontoneocerebellar hypoplasia	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pontoneocerebellar hypoplasia	Pontoneocerebellar hypoplasia	BEFREE	21273289, 22569581, 24047924, 25809939, 26970947, 27061686, 27769281		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Scoliosis, unspecified	Scoliosis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Secondary microcephaly	Microcephaly	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	27769281, 34717047	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	27061686	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	27061686		★★★★★ ★☆☆☆☆ Found in Text Mining only

RARS2 (arginyl-tRNA synthetase 2, mitochondrial)